ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4811C>G (p.Pro1604Arg) (rs876659682)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000214966 SCV000276395 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or Conflicting Evidence,Rarity in general population databases (dbSNP, ESP, 1000 Genomes)
Invitae RCV000796339 SCV000935849 uncertain significance Familial adenomatous polyposis 1 2018-09-23 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 1604 of the APC protein (p.Pro1604Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with APC-related disease. ClinVar contains an entry for this variant (Variation ID: 232299). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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